V60E (p.Val60Glu) variant of PLAT (P00750)
V60E (p.Val60Glu) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V60E (p.Val60Glu) variant details
- p.Val60Glu
- 1000Genomes rs532003804
- ExAC rs532003804
- TOPMed rs532003804
- gnomAD rs532003804
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.15
- CADD 7.61
- PolyPhen-2 0.04
- SIFT 0.38
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available